LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Spanish
- Study Design
- Allele and genotype distributions of rs1333049 were compared in centenarians and younger adults (without (healthy) or with CAD) in two independent cohorts: Spanish and Japanese.
- Conclusions
- The frequency of the GG genotype in centenarians was higher than either healthy or CAD controls in Spanish. In the Japanese cohort, C allele did not differ between centenarians and healthy controls, but it was significantly lower in centenarians than in CAD controls.
- Identifier
- rs1333049
- In Other Studies (IDs)
- 380 391 855
- Cytogenetic Location
- 17p13.1
- UCSC Genome Browser
- View 17p13.1 on the UCSC genome browser
Gene details
- HGNC symbol
- TP53
- Aliases
- P53; BCC7; LFS1; TRP53
- Common name
- tumor protein p53
- Description
- This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 47
- OMIM
- 191170
- Ensembl
- ENSG00000141510
- UniProt/Swiss-Prot
- A0A087WT22_HUMAN
- Entrez Gene
- 7157
- UniGene
- 437460
- HapMap
- View on HapMap